(Q84844727)

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Menkes disease

scientific article published on 04 November 2009

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

Europe PubMed Central

Menkes disease (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Lisbeth Birk Møller

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

publication date

4 November 2009

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

511-518

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.187

0 references

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correction of a mouse model of Menkes disease by the human Menkes gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intragenic deletions at Atp7a in mouse models for Menkes disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copper transport and metabolism are normal in aceruloplasminemic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of mouse embryonic cells deficient in the ctr1 high affinity copper transporter. Identification of a Ctr1-independent copper transport system

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Essential role for Atox1 in the copper-mediated intracellular trafficking of the Menkes ATPase

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Iron and copper homeostasis and intestinal absorption using the Caco2 cell model

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology of Menkes disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical study on the critical period for treatment of the mottled brindled mouse.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of Menkes disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Are X-linked cutis laxa and Menkes disease allelic?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copper biochemistry and molecular biology

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Menkes disease: recent advances and new aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atp7a determines a hierarchy of copper metabolism essential for notochord development

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of superoxide dismutases: putting the metal to the pedal

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ctr1 drives intestinal copper absorption and is essential for growth, iron metabolism, and neonatal cardiac function

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Testicular morphology and expression of aromatase in testes of mice with the mosaic mutation (Atp7a mo-ms)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical basis of regulation of human copper-transporting ATPases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zinc, antioxidant systems and metallothionein in metal mediated-apoptosis: biochemical and cytochemical aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal diagnosis and treatment of Menkes disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo correction of a Menkes disease model using antisense oligonucleotides

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copper transport to the brain by the blood-brain barrier and blood-CSF barrier

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New roles for copper metabolism in cell proliferation, signaling, and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generation of superoxide radicals by copper-glutathione complexes: redox-consequences associated with their interaction with reduced glutathione

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evolution of P-type ATPases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of copper trafficking genes in the mouse brain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation spectrum of ATP7A, the gene defective in Menkes disease

2 references

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

https://api.crossref.org/works/10.1038%2FEJHG.2009.187

7 January 2021

based on heuristic

inferred from DOI database lookup

NMDA receptor activation mediates copper homeostasis in hippocampal neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Downregulation of myelination, energy, and translational genes in Menkes disease brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copper exposure induces trafficking of the menkes protein in intestinal epithelium of ATP7A transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19888294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Menkes Disease and the Occipital Horn Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.187

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/EJHG.2009.187

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

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